Nonsense-mediated mRNA decay due to a CACNA1C splicing mutation in a patient with Brugada syndrome.

Abstract excerpt

BACKGROUND: Brugada syndrome (BrS) is an inherited cardiac arrhythmia associated with sudden death due to ventricular fibrillation. Mutations in genes related to the cardiac L-type calcium channel have been reported to be causative of BrS. Generally, the messenger RNA (mRNA) that contains a nonsense mutation is rapidly degraded via its decay pathway, which is known as nonsense-mediated mRNA decay (NMD)....

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